New drug announced from Evelina London

Melvil receives risdiplam through a clinical trial.

A new drug is now available to children with a rare genetic condition.

NHS England has made risdiplam available to children and adults who have the progressive condition spinal muscular atrophy (SMA).

Announced from our children’s hospital, a specialist centre for the treatment of neurological conditions, this treatment will help many patients each year improve their mobility.

Dr Elizabeth Wraige, consultant paediatric neurologist, said: “Having risdiplam as a third treatment option for our patients is excellent news. It will be especially important for anyone with SMA who cannot safely receive either of the two existing treatments. This news will be welcomed by families and individuals affected by SMA as well as by their doctors.”

As an oral syrup medicine, it is taken once a day after meals and is the first treatment for SMA that can be taken at home. Other treatments are administered in hospitals via an infusion or injection. Risdiplam can be given to patients with SMA types 1, 2 or 3.

Evelina London patient, Melvil Vedrenne-Cloquet, 9, has type 3 SMA, and receives risdiplam through a clinical trial.

His mum, Eve, said: "When my son Melvil was diagnosed with SMA type 3 in 2014, there was no effective treatment option for him, except on a clinical trial. It is absolutely amazing how much has changed in such a short time.

"Since taking risdiplam, we have seen really positive results and my son faces a new brighter future. It's fantastic for other children and their families out there that it will now be available on the NHS, because when it comes to a diagnosis of SMA, time is of the essence. Children will never get what they have lost back, so the faster they can get the right medicines the better."

Dr Sara Hanna, Medical Director at Evelina London said: “Our specialist children’s hospital provides a neurology, neurodevelopmental and neurodisability service for children and families in South East England and beyond, serving a total population of over 9 million people. Being able to provide a life-changing treatment which can be administered at home is a brilliant step forward in giving options for specialist treatments to best suit the families we care for.”

The rare genetic disease causes muscle weakness and progressive loss of movement. Risdiplam may prevent a decline in motor functions, and improve everyday actions such as head control, rolling, sitting, standing, and the ability to walk. It may also help to keep muscles used for eating, drinking and breathing strong.

This is the third treatment for SMA that has been made available in the last three years. Earlier this year, Evelina London treated the first patient in England with the gene-therapy zolgensma.